Results 41 to 50 of about 1,501 (178)

Outpatient management of large scalp aplasia cutis congenita without skull defect in a case of Adams-Oliver syndrome. [PDF]

Kaohsiung J Med Sci
The Kaohsiung Journal of Medical Sciences, Volume 41, Issue 2, February 2025.
Tsai YT, Yang YC.
europepmc   +2 more sources

Characteristics of mucocutaneous vascular malformations drawn from a decade of a multidisciplinary committee experience

Dermatologic Therapy, Volume 34, Issue 5, September/October 2021., 2021
Abstract Vascular malformations (VM) are congenital, benign, and relatively frequent lesions. Scant data have been published about the epidemiology, clinical presentation, and treatment of VM from a dermatologist's perspective. The substantial differences between subtypes, broad range of specialists consulted and confusing nomenclature used over ...
Andrea Estébanez, Miguel Puche‐Torres, Juan Manuel Sanchis García, Alberto Cuñat, Maria Isabel Pinazo Canales, María Francisca Rausell Félix, Salvador Campos, Juan Márquez Cañada, Jose María Martín Hernández   +8 more
wiley   +1 more source

Born in the Purple: An Exceptional Case of Cutis Marmorata Telangiectatica Congenita [PDF]

, 2020
A full-term, 2-day-old female neonate with a congenital non-tender reticular patch that did not disappear with local warming was referred to our department for consultation.
Efthymia Gialeli, Eleftheria Vryzaki, Georgia Kyriakou, Sophia Georgiou   +3 more
core   +3 more sources

Cutis Marmorata Telangiectatica Congenita in a Preterm Female Newborn: Case Report and Review of the Literature

La Pediatria Medica e Chirurgica, 2014
Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare, sporadic condition usually present at birth characterized by localized or generalized persistent cutis marmorata, telangiectasia and phlebectasia.
C. De Maio, G. Pomero, A. Delogu, E. Briatore, M. Bertero, P. Gancia   +5 more
doaj   +1 more source

Cutis marmorata telangiectatica congenita with limb defects, cleft palate, and ambiguous genitalia

Indian Journal of Paediatric Dermatology, 2020
Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, vascular malformation first described by van Lohuizen in 1922. CMTC is an infrequently reported congenital cutaneous disorder and is usually present at birth but can appear up ...
Manish Jain, Safa Patrick, Sumit Kar, Prachi Gawande   +3 more
doaj   +1 more source

Cutis marmorata telangiectatica congenita in a preterm newborn - Case report and literature review. [PDF]

Iran Red Crescent Med J, 2012
Matic A, Pricic S, Matic M, Velisavljev Filipovic G, Ristivojevic A.   +4 more
europepmc   +2 more sources

The Neonate with Minor Dysmorphisms [PDF]

, 2017
Congenital anomalies are present in at least 10% of all neonatal intensive care unit admissions, of whom many have an underlying genetic condition. About 50–60% of human congenital anomalies are of unknown etiology, and approximately one- third are ...
Berceanu, Costin, Boț, Mihaela, Mehedințu, Claudia, Popescu, Simona, Vlădăreanu, Simona   +4 more
core   +2 more sources

Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

Frontiers in Pediatrics, 2023
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominantly inherited disease characterized by slow mental and physical growth, skeletal abnormalities (broad thumbs and big toes), and dysmorphic facial features.
Yang Yang, Jing Xiao, Yuanyuan Ye, Jianwen Xiang, Zhu Wang, Jia Chen   +5 more
doaj   +1 more source

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. [PDF]

, 2015
BACKGROUND: Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent.
Brancati, F, Coerdt, W, Collinson, CS, Dallapiccola, B, Digilio, MC, Graul-Neumann, LM, Jacquemin, E, Joss, S, Karountzos, ASV, Machado, RD, Ruddy, D, Salviati, L, Snape, KM, Southgate, L, Sukalo, M, Taylor, EJ, Tolmie, JL, Trembath, RC, Wuyts, W, Zenker, M   +19 more
core   +3 more sources

Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA [PDF]

, 2020
Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-
Davis, Shanlee, Deardorff, Matthew A, Grand, Katheryn, Grimberg, Adda, Hsu, Stephanie, Kelsey, Megan, Majidi, Shideh, Matthew, Revi P, McKinnon, Margaret L, Mirzaa, Ghayda, Napier, Melanie, Nokoff, Natalie, Prasad, Chitra, Riggs, Andrew C, Ware, Meredith A, Zeiger, Jordan   +15 more
core   +2 more sources